Nature Communications (May 2020)

Germline variant burden in cancer genes correlates with age at diagnosis and somatic mutation burden

  • Tao Qing,
  • Hussein Mohsen,
  • Michal Marczyk,
  • Yixuan Ye,
  • Tess O’Meara,
  • Hongyu Zhao,
  • Jeffrey P. Townsend,
  • Mark Gerstein,
  • Christos Hatzis,
  • Yuval Kluger,
  • Lajos Pusztai

DOI
https://doi.org/10.1038/s41467-020-16293-7
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 8

Abstract

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Germline variants that affect the expression or function of protein-coding regions of cancer genes are associated with cancer susceptibility. Here, the authors show that a larger number of germline variants are present in early-onset cancers, while acquired somatic mutations are prevalent in cancers that develop at older age.